Parkinson Disease and Complex Parkinsonism
Gene: SNCA

SNCA (synuclein alpha)
EnsemblGeneIds (GRCh38): ENSG00000145335
EnsemblGeneIds (GRCh37): ENSG00000145335
OMIM: 163890, Gene2Phenotype
SNCA is in 5 panels

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Please consider also whole gene duplications and triplications
Created: 29 Nov 2016, 4 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
parkinson disease; dementia with lewy body

Created: 29 Nov 2016, 4 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: A gene-dosage effect has been observed with disease-severity in some cases - triplication of the gene has been reported in families to segregate with parkinsonism (PMID: 14593171, 17251522), and gene duplication with with autosomal dominant Parkinson disease (15451225, 15451224). There are also missense mutations that have been reported.
Created: 2 Nov 2016, 2:07 p.m.

Comment on list classification: Is on the Parkinson's Disease NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 10:29 a.m.

Created: 10 Jun 2016, 10:29 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert

Phenotypes

Parkinson disease 4, 605543
Dementia, Lewy body, 127750
Parkinson disease 1, 168601
Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4)

Tags

gene-duplication

OMIM

163890

Clinvar variants

Variants in SNCA

Penetrance

Complete

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene